Canonical Allele Identifier: CA379475020

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637962C>G (hg19) ; chr11:g.6616731C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616731C>G , CM000673.2:g.6616731C>G	GRCh38
NC_000011.9:g.6637962C>G , CM000673.1:g.6637962C>G	GRCh37
NC_000011.8:g.6594538C>G	NCBI36
NG_008653.1:g.7731G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.702G>C	ENSP00000507321.1:p.Glu234Asp
ENST00000299427.12:c.816G>C MANE Select	ENSP00000299427.6:p.Glu272Asp
ENST00000436873.7:c.312+570G>C
ENST00000524788.2:n.1975G>C
ENST00000524903.2:n.2091G>C
ENST00000528807.2:n.472G>C
ENST00000530040.2:n.480-228G>C
ENST00000533371.6:c.87G>C	ENSP00000437066.1:p.Glu29Asp
ENST00000642892.1:c.87G>C	ENSP00000494165.1:p.Glu29Asp
ENST00000643439.1:c.*556G>C	ENSP00000495849.1:n.*556G>C
ENST00000643479.1:n.845G>C
ENST00000643516.1:c.396-228G>C
ENST00000644151.1:n.2255G>C
ENST00000644218.1:c.816G>C	ENSP00000493574.1:p.Glu272Asp
ENST00000644683.1:c.*269G>C	ENSP00000494085.1:n.*269G>C
ENST00000644810.1:c.537G>C	ENSP00000495895.1:p.Glu179Asp
ENST00000644831.1:n.992G>C
ENST00000644933.1:c.87G>C	ENSP00000496133.1:p.Glu29Asp
ENST00000645020.1:n.2106G>C
ENST00000645285.1:c.87G>C	ENSP00000495058.1:p.Glu29Asp
ENST00000645331.1:n.1182G>C
ENST00000645620.1:c.87G>C	ENSP00000493657.1:p.Glu29Asp
ENST00000646777.1:n.992G>C
ENST00000647016.1:n.1296G>C
ENST00000647152.1:c.87G>C	ENSP00000495893.1:p.Glu29Asp
ENST00000647209.1:c.*685G>C	ENSP00000495558.1:n.*685G>C
ENST00000647346.1:n.1836G>C
ENST00000299427.10:c.816G>C	ENSP00000299427.6:p.Glu272Asp
ENST00000436873.6:c.451-228G>C	ENSP00000398136.2:n.451-228G>C
ENST00000524788.1:n.516G>C
ENST00000528807.1:n.366G>C
ENST00000533371.5:c.87G>C	ENSP00000437066.1:p.Glu29Asp
ENST00000611494.4:c.816G>C	ENSP00000484546.1:p.Glu272Asp
NM_000391.3:c.816G>C	NP_000382.3:p.Glu272Asp
NM_000391.4:c.816G>C MANE Select	NP_000382.3:p.Glu272Asp